A zebrafish model for hepatoerythropoietic porphyria

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1989 • 2,480 citations

The Metabolic Basis of Inherited Diseases

1972 • 1,762 citations

The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio

1996 • 1,633 citations

Large-scale mutagenesis in the zebrafish: in search of genes controlling development in a vertebrate

1994 • 762 citations

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia.

1989 • 637 citations

Genetics and early development of zebrafish

1989 • 416 citations

GATA-1 expression pattern can be recapitulated in living transgenic zebrafish using GFP reporter gene

1997 • 401 citations

A Genetic Linkage Map for the Zebrafish

1994 • 385 citations

Porphyria Cutanea Tarda

1998 • 270 citations

Characterization of zebrafish mutants with defects in embryonic hematopoiesis

1996 • 270 citations

Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia

1998 • 249 citations

Hematopoietic mutations in the zebrafish

1996 • 234 citations

High-frequency germ-line transmission of plasmid DNA sequences injected into fertilized zebrafish eggs.

1991 • 193 citations

Familial and sporadic porphyria cutanea

1978 • 181 citations

Of Flies and Fishes

1994 • 123 citations

Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.

1986 • 107 citations

Uroporphyrinogen Decarboxylase Structural Mutant (Gly281→Glu) in a Case of Porphyria

1986 • 95 citations

Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

1996 • 74 citations

Structure of the gene for human uroporphyrinogen decarboxylase

1987 • 67 citations

Effects of polychlorinated biphenyl compounds, 2,3,7,8-tetrachlorodibenzo-p-dioxin, phenobarbital and iron on hepatic uroporphyrinogen decarboxylase. Implications for the pathogenesis of porphyria

1983 • 60 citations

A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda

1989 • 58 citations

A Mutation (G281E) of the Human Uroporphyrinogen Decarboxylase Gene Causes Both Hepatoerythropoietic Porphyria and Overt Familial Porphyria Cutanea Tarda: Biochemical and Genetic Studies on Spanish Patients

1995 • 53 citations

Molecular Defects of Uroporphyrinogen Decarboxylase in a Patient with Mild Hepatoerythropoietic Porphyria

1994 • 51 citations

Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects

1989 • 48 citations

Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria

1996 • 40 citations

Identification of a new mutation responsible for hepatoerythropoietic porphyria

1991 • 38 citations

Cloning and sequencing of the hemE gene encoding uroporphyrinogen III decarboxylase (UPD) from Escherichia coli K-12

1993 • 34 citations

Rat uroporphyrinogen decarboxylase cDNA: nucleotide sequence and comparison to human uroporphyrinogen decarboxylase

1987 • 31 citations

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria

1992 • 31 citations

Uroporphyrinogen decarboxylase in Saccharomyces cerevisiae

1992 • 28 citations

Identification of amino acid changes affecting yeast uroporphyrinogen decarboxylase activity by sequence analysis of hem12 mutant alleles

1992 • 17 citations

Mouse uroporphyrinogen decarboxylase: CDNA cloning, expression, and mapping

1996 • 7 citations